Proximal spinal muscular atrophy type 2
Synonyms: Intermediate spinal muscular atrophy · SMA type 2 · SMA type II · SMA-II · SMA2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting between 6 and 18 months of age with progressive, predominantly proximal muscle weakness. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type 2 learned to sit, but never achieved independent ambulation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal spinal muscular atrophy type 2 | Intermediate spinal muscular atrophy · SMA type 2 · SMA type II · SMA-II · SMA2 |
| fr | Amyotrophie spinale proximale type 2 | Amyotrophie spinale intermédiaire · SMA type 2 · SMA type II · SMA-II · SMA2 |
| de | Spinale Muskelatrophie, proximale, Typ 2 | SMA Typ 2 · SMA Typ II · SMA-II · SMA2 · Spinale Muskelatrophie, intermediäre |
| es | Atrofia muscular espinal proximal tipo 2 | AME tipo 2 · AME tipo II · AME-II · AME2 · Atrofia muscular espinal intermedia · SMA tipo 2 · SMA tipo II · SMA-II · SMA2 |
| it | Atrofia muscolare spinale prossimale, tipo 2 | SMA, tipo 2 · SMA, tipo II · SMA-II · SMA2 · Atrofia muscolare spinale intermedia |
| nl | Proximale spinale spieratrofie type 2 | Intermediaire spinale spieratrofie · SMA type 2 · SMA type II · SMA-II · SMA2 |
| pt | Atrofia muscular espinhal proximal tipo 2 | Atrofia muscular espinhal crónica · Atrofia muscular espinhal intermédia · SMA tipo 2 |
| pl | Rdzeniowy zanik mięśni typu 2 | Pośredni rdzeniowy zanik mięśni · Przewlekły dziecięcy rdzeniowy zanik mięśni · Przewlekły rdzeniowy zanik mięśni · SMA typu 2 · SMA typu II · SMA2 · SMA-II |
| cs | Proximální spinální svalová atrofie, typ 2 | Chronická infantilní spinální svalová atrofie · Chronická spinální svalová atrofie · SMA typ 2 · SMA typ II · SMA-II · SMA2 · Středně závažná spinální svalová atrofie |
| uk | Проксимальна спінальна мязова атрофія, тип 2 | Проміжна спінальна мязова атрофія · SMA тип 2 · SMA тип II · SMA2 · SMA-II |
| zh | 近端脊髓肌萎缩2型 | 慢性婴儿型脊髓性肌萎缩症 |
| tr | Proksimal spinal kas atrofisi tip 2 | SMA2 · SMA-II · SMA tip 2 · SMA tip II · Kronik spinal kas atrofisi · Orta dereceli spinal kas atrofi · Kronik infantil spinal kas atrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253550 | E | validated | |
| ICD-10 | G12.1 | NTBT | inclusion | validated |
| ICD-11 | 8B61.1 | E | specific | validated |
| MONDO | 0009673 | E | validated | |
| UMLS | C0393538 | E | validated | |
| GARD | 4945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:70Proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11117 | ENSG00000172062 | 600354 | 5q13.2 | survival of motor neuron 1, telomeric | 20301526[PMID] |
| NAIP | Modifying germline mutation in | Assessed | HGNC:7634 | ENSG00000249437 | 600355 | 5q13.2 | NLR family apoptosis inhibitory protein | 11912351[PMID] |
| SMN2 | Modifying germline mutation in | Assessed | HGNC:11118 | ENSG00000205571 | 601627 | 5q13.2 | survival of motor neuron 2, centromeric | 20301526[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | 10677857[PMID]_1483045[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 28676062[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83418
- This record as JSON: /data/d/83418.json